Canonical Allele Identifier: CA027853

Gene: PKP2

Linked Data

• dbSNP Id: rs769026427
• ExAC: 12:33003655 TG / T
• gnomAD v2: 12-33003655-TG-T
• gnomAD v4: 12-32850721-TG-T
• MyVariant Identifiers: chr12:g.33003656del (hg19) ; chr12:g.32850722del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850725del , CM000674.2:g.32850725del	GRCh38
NC_000012.11:g.33003659del , CM000674.1:g.33003659del	GRCh37
NC_000012.10:g.32894926del	NCBI36
NG_009000.1:g.51125del , LRG_398:g.51125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1378+44del	ENSP00000515065.2:n.1378+44del
ENST00000700563.2:c.1378+44del	ENSP00000515066.2:n.1378+44del
ENST00000700559.1:c.593+44del
ENST00000700560.1:n.593+44del
ENST00000700561.1:n.719+44del
ENST00000700563.1:c.1332+44del
ENST00000700564.1:n.1382+44del
ENST00000700565.1:n.1231+44del
ENST00000070846.11:c.1378+44del	ENSP00000070846.6:n.1378+44del
ENST00000340811.9:c.1378+44del MANE Select	ENSP00000342800.5:n.1378+44del
ENST00000070846.10:c.1378+44del	ENSP00000070846.6:n.1378+44del
ENST00000340811.8:c.1378+44del	ENSP00000342800.4:n.1378+44del
ENST00000613243.1:c.1378+44del	ENSP00000478295.1:n.1378+44del
NM_001005242.2:c.1378+44del	NP_001005242.2:n.1378+44del
NM_004572.3:c.1378+44del , LRG_398t1:c.1378+44del	NP_004563.2:n.1378+44del
NM_001005242.3:c.1378+44del MANE Select	NP_001005242.2:n.1378+44del
NM_004572.4:c.1378+44del	NP_004563.2:n.1378+44del